NM_006493.4(CLN5):c.340-136G>A
|
rs605153
|
0.99234
|
NM_006493.1(CLN5):c.-115G=
|
rs654196
|
0.46777
|
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg)
|
rs1800209
|
0.19521
|
NM_006493.4(CLN5):c.*292G>A
|
rs700363
|
0.12838
|
NM_006493.4(CLN5):c.-144C>T
|
rs77416795
|
0.12832
|
NM_006493.4(CLN5):c.339+309T>C
|
rs9573972
|
0.10982
|
NM_006493.4(CLN5):c.*155C>T
|
rs700365
|
0.09182
|
NM_006493.4(CLN5):c.*33A>G
|
rs9573974
|
0.08077
|
NM_006493.4(CLN5):c.-76A>G
|
rs7987664
|
0.07840
|
NM_006493.4(CLN5):c.565+90T>A
|
rs7328841
|
0.03482
|
NM_006493.4(CLN5):c.1041T>C (p.Pro347=)
|
rs36038805
|
0.03060
|
NM_006493.4(CLN5):c.340-185C>G
|
rs113859549
|
0.01575
|
NM_006493.4(CLN5):c.*158C>G
|
rs111327761
|
0.01567
|
NM_006493.4(CLN5):c.566-321A>C
|
rs113639365
|
0.01556
|
NM_006493.4(CLN5):c.381T>G (p.Thr127=)
|
rs34481987
|
0.01377
|
NM_006493.4(CLN5):c.565+262C>A
|
rs144108987
|
0.01236
|
NM_006493.4(CLN5):c.340-248T>C
|
rs45587934
|
0.01198
|
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)
|
rs138611001
|
0.00910
|
NM_006493.4(CLN5):c.174-284C>A
|
rs7984162
|
0.00713
|
NM_006493.4(CLN5):c.*180C>T
|
rs700364
|
0.00556
|
NM_006493.4(CLN5):c.566-147G>A
|
rs141010472
|
0.00483
|
NM_006493.4(CLN5):c.-87C>T
|
rs200353554
|
0.00309
|
NM_006493.4(CLN5):c.-99G>C
|
rs202118652
|
0.00208
|
NM_006493.4(CLN5):c.705G>A (p.Val235=)
|
rs116531784
|
0.00163
|
NM_006493.4(CLN5):c.-146T>C
|
rs201615354
|
0.00104
|
NM_006493.4(CLN5):c.459G>A (p.Met153Ile)
|
rs144656959
|
0.00058
|
NM_006493.4(CLN5):c.5C>T (p.Ala2Val)
|
rs146993892
|
0.00050
|
NM_006493.4(CLN5):c.265G>A (p.Asp89Asn)
|
rs138110438
|
0.00034
|
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser)
|
rs41287036
|
0.00026
|
NM_006493.4(CLN5):c.656A>C (p.Glu219Ala)
|
rs11842935
|
0.00021
|
NM_006493.4(CLN5):c.565+3_565+4dup
|
rs745312608
|
0.00019
|
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)
|
rs546989392
|
0.00010
|
NM_006493.4(CLN5):c.-4C>T
|
rs587780896
|
0.00009
|
NM_006493.4(CLN5):c.1019A>C (p.Lys340Thr)
|
rs745767054
|
0.00009
|
NM_006493.4(CLN5):c.417C>T (p.Phe139=)
|
rs371229525
|
0.00009
|
NM_006493.4(CLN5):c.812A>G (p.Asn271Ser)
|
rs199609750
|
0.00009
|
NM_006493.2(CLN5):c.52C>T (p.Gln18Ter)
|
rs773979248
|
0.00008
|
NM_006493.4(CLN5):c.569A>G (p.Asn190Ser)
|
rs369100769
|
0.00007
|
NM_006493.4(CLN5):c.642A>T (p.Val214=)
|
rs751496223
|
0.00007
|
NM_006493.2(CLN5):c.-11G>C
|
rs554524153
|
0.00006
|
NM_006493.4(CLN5):c.1048A>G (p.Ile350Val)
|
rs762333226
|
0.00006
|
NM_006493.4(CLN5):c.662G>A (p.Gly221Glu)
|
rs368428437
|
0.00006
|
NM_006493.4(CLN5):c.-21G>A
|
rs529998879
|
0.00005
|
NM_006493.4(CLN5):c.687C>T (p.Tyr229=)
|
rs778480440
|
0.00005
|
NM_006493.2(CLN5):c.-8G>A
|
rs772316134
|
0.00004
|
NM_006493.4(CLN5):c.1A>T (p.Met1Leu)
|
rs371624826
|
0.00004
|
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)
|
rs386833980
|
0.00004
|
NM_006493.2(CLN5):c.116C>G (p.Ser39Trp)
|
rs61504484
|
0.00003
|
NM_006493.2(CLN5):c.22G>C (p.Gly8Arg)
|
rs762873839
|
0.00003
|
NM_006493.2(CLN5):c.54A>G (p.Gln18=)
|
rs767480061
|
0.00003
|
NM_006493.4(CLN5):c.-141C>T
|
rs759859373
|
0.00003
|
NM_006493.4(CLN5):c.371G>A (p.Ser124Asn)
|
rs369122820
|
0.00003
|
NM_006493.4(CLN5):c.424G>C (p.Gly142Arg)
|
rs201464545
|
0.00003
|
NM_006493.4(CLN5):c.487G>A (p.Ala163Thr)
|
rs148544801
|
0.00003
|
NM_006493.4(CLN5):c.869G>T (p.Arg290Ile)
|
rs770688728
|
0.00003
|
NM_006493.2(CLN5):c.117G>C (p.Ser39=)
|
rs779934262
|
0.00002
|
NM_006493.2(CLN5):c.57C>A (p.Gly19=)
|
rs1057522685
|
0.00002
|
NM_006493.4(CLN5):c.526A>G (p.Lys176Glu)
|
rs142870036
|
0.00002
|
NM_006493.2(CLN5):c.24G>A (p.Gly8=)
|
rs751533177
|
0.00001
|
NM_006493.2(CLN5):c.5G>C (p.Arg2Pro)
|
rs796052342
|
0.00001
|
NM_006493.4(CLN5):c.13G>A (p.Val5Ile)
|
rs1064795659
|
0.00001
|
NM_006493.4(CLN5):c.188G>A (p.Arg63His)
|
rs104894386
|
0.00001
|
NM_006493.4(CLN5):c.21G>T (p.Thr7=)
|
rs1057521258
|
0.00001
|
NM_006493.4(CLN5):c.339+11A>G
|
rs755999018
|
0.00001
|
NM_006493.4(CLN5):c.472T>C (p.Trp158Arg)
|
rs147065248
|
0.00001
|
NM_006493.4(CLN5):c.565+15T>G
|
rs751120160
|
0.00001
|
NM_006493.4(CLN5):c.565+20C>T
|
rs780892019
|
0.00001
|
NM_006493.4(CLN5):c.637A>C (p.Asn213His)
|
rs140122775
|
0.00001
|
NM_006493.4(CLN5):c.761C>T (p.Thr254Ile)
|
rs398124228
|
0.00001
|
NM_006493.4(CLN5):c.764A>C (p.Asn255Thr)
|
rs929479143
|
0.00001
|
NM_006493.4(CLN5):c.773G>A (p.Arg258Lys)
|
rs376675270
|
0.00001
|
NM_006493.4(CLN5):c.904A>G (p.Lys302Glu)
|
rs1060502320
|
0.00001
|
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser)
|
rs201767993
|
0.00001
|
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)
|
rs148862100
|
0.00001
|
GRCh37/hg19 13q22.3(chr13:77574552-77575350)x1
|
|
|
NM_001366624.2(CLN5):c.*43G>A
|
rs2034339711
|
|
NM_006493.2(CLN5):c.116C>A (p.Ser39Ter)
|
rs61504484
|
|
NM_006493.2(CLN5):c.14T>C (p.Leu5Pro)
|
rs2154034182
|
|
NM_006493.2(CLN5):c.2T>A (p.Met1Lys)
|
rs201615354
|
|
NM_006493.2(CLN5):c.42C>G (p.Asp14Glu)
|
rs1259746826
|
|
NM_006493.2(CLN5):c.50G>C (p.Gly17Ala)
|
rs769990158
|
|
NM_006493.2(CLN5):c.52C>A (p.Gln18Lys)
|
rs773979248
|
|
NM_006493.4(CLN5):c.*269G>A
|
rs137867457
|
|
NM_006493.4(CLN5):c.-96C>G
|
rs773979248
|
|
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer)
|
rs386833969
|
|
NM_006493.4(CLN5):c.1062A>T (p.Thr354=)
|
rs1555274409
|
|
NM_006493.4(CLN5):c.1067_1068del (p.Ser356fs)
|
rs796052345
|
|
NM_006493.4(CLN5):c.175C>T (p.Arg59Cys)
|
rs765773686
|
|
NM_006493.4(CLN5):c.21G>A (p.Thr7=)
|
rs1057521258
|
|
NM_006493.4(CLN5):c.21G>C (p.Thr7=)
|
rs1057521258
|
|
NM_006493.4(CLN5):c.287G>A (p.Arg96Gln)
|
rs201068201
|
|
NM_006493.4(CLN5):c.415T>C (p.Phe139Leu)
|
rs794727507
|
|
NM_006493.4(CLN5):c.416T>C (p.Phe139Ser)
|
rs2034259131
|
|
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer)
|
rs587780315
|
|
NM_006493.4(CLN5):c.544G>A (p.Val182Ile)
|
rs1064795474
|
|
NM_006493.4(CLN5):c.559A>G (p.Ile187Val)
|
|
|
NM_006493.4(CLN5):c.565+20C>G
|
rs780892019
|
|
NM_006493.4(CLN5):c.566-55del
|
rs58476086
|
|
NM_006493.4(CLN5):c.566-55dup
|
rs58476086
|
|
NM_006493.4(CLN5):c.566-56_566-55dup
|
rs58476086
|
|
NM_006493.4(CLN5):c.566-7A>G
|
rs772501269
|
|
NM_006493.4(CLN5):c.566-8dup
|
rs760343764
|
|
NM_006493.4(CLN5):c.566-97G>A
|
rs67836242
|
|
NM_006493.4(CLN5):c.661G>C (p.Gly221Arg)
|
rs755669847
|
|
NM_006493.4(CLN5):c.675G>A (p.Trp225Ter)
|
rs1555274338
|
|
NM_006493.4(CLN5):c.683C>T (p.Ser228Phe)
|
rs753041170
|
|
NM_006493.4(CLN5):c.731A>G (p.Glu244Gly)
|
rs1057518562
|
|
NM_006493.4(CLN5):c.752A>G (p.Asn251Ser)
|
rs777477178
|
|
NM_006493.4(CLN5):c.775A>G (p.Ile259Val)
|
rs794727641
|
|
NM_006493.4(CLN5):c.777_778del (p.Phe260fs)
|
rs786204644
|
|
NM_006493.4(CLN5):c.808_823del (p.Gly270fs)
|
rs386833983
|
|
NM_006493.4(CLN5):c.885C>G (p.Phe295Leu)
|
rs772050001
|
|
NM_006493.4(CLN5):c.920G>A (p.Ser307Asn)
|
rs1555274374
|
|
NM_006493.4(CLN5):c.955_956delinsCG (p.Lys319Arg)
|
rs2034348880
|
|
NM_006493.4(CLN5):c.956_959del (p.Lys319fs)
|
rs386833967
|
|